The Cellular Impact of Lysosomal Storage Disorders
A special issue of Medical Sciences (ISSN 2076-3271). This special issue belongs to the section "Endocrinology and Metabolic Diseases".
Deadline for manuscript submissions: closed (26 July 2024) | Viewed by 523
Special Issue Editors
Interests: lysosomal storage disorders; human genetics; molecular genetics; human iPSCs; gene editing; cell models; epigenetics; neurometabolic diseases; neurodegenerative disorders
Special Issues, Collections and Topics in MDPI journals
Interests: lysosomal storage disorders; human genetics; human iPSCS; gene editing; cell models; cell biology; molecular genetics
Interests: mRNA metabolism; genetic biochemistry diagnosis; lysosomal storage disorders; neurodegenerative and neurometabolic diseases; molecular genetics; cloning and cell lines; forensic sciences
Special Issue Information
Dear Colleagues,
Lysosomal storage disorders are a heterogeneous group of rare genetic disorders in which the lysosome plays a pivotal role. The lysosome is a complex organelle, and we want to explore its functions within the cellular landscape. In this Special Issue we want to emphasize the influence of lysosomal dysfunction on various facets of cell biology and processes involved in disease. The interplay of various organelles and cellular pathways, as well as genetic and biochemical mechanisms, still have many aspects to be discovered. Technological innovation and emerging concepts in biology lead to mutable notions about pathologic processes, and the open sharing of new ideas among peers helps in validating the innovative concepts. After two years of pandemic, and subsequent challenges regarding forms of thinking and working, we intend to support and publish promising discoveries.
With this Special Issue we expect to provide a common ground for researchers, health professionals and students to share their findings. The scope of this journal is inclusive; we encourage the submission of works in the aforementioned areas, particularly in the following themes:
- Lysosomal dysfunction and processes involved in disease;
- New personalized approaches to therapies, models and innovative diagnosis;
- Interconnection between non-lysosomal diseases and lysosomal dysfunction.
We look forward to your collaboration.
Dr. Olga Amaral
Dr. Ana Joana Duarte
Dr. M Rosário Rodrigues
Guest Editors
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Keywords
- Lysosomal Storage Disorders
- hereditary disorders of metabolism
- cellular dysfunction
- models of human genetic diseases
- cellular mechanisms of pathology
- lysosome interaction in the cellular environment
- molecular and phenotypic heterogeneity
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